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Cryptophthalmos in two families from Bahia, Brazil. J Med Genet 1973;10:389-92.","journal-title":"J Med Genet"},{"key":"ref_2","first-page":"179","article-title":"Recognizable patterns of human malformation","author":"Smith, D.W.","year":"1982","unstructured":"Smith DW. Recognizable patterns of human malformation. 3rd ed. Philadelphia: Saunders, 1982:179.","edition":"3rd ed"},{"issue":"18","key":"ref_3","first-page":"18","article-title":"Syndrome malformatif avec cryptophthalmie","volume":"1969","author":"Franqois, J.","unstructured":"Franqois J. Syndrome malformatif avec cryptophthalmie. Acta Genet Med Gemellol (Roma) 1969;18:18-50.","journal-title":"Acta Genet Med Gemellol (Roma)"},{"issue":"25","key":"ref_4","first-page":"387","article-title":"Our genetic 'load'. A review of some aspects of genetic variation","volume":"1962","author":"Fraser, C.R.","unstructured":"Fraser CR. Our genetic 'load'. A review of some aspects of genetic variation. Ann Hum Genet 1962;25:387-415.","journal-title":"Ann Hum Genet"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"360","DOI":"10.1136\/jmg.19.5.360","article-title":"Fraser syndrome presenting as bilateral renal agenesis in three sibs","volume":"19","author":"Burn, J.; Marwood, R.P.","year":"1982","unstructured":"Burn J, Marwood RP. Fraser syndrome presenting as bilateral renal agenesis in three sibs. J Med Genet 1982;19:360-1.","journal-title":"J Med Genet"},{"key":"ref_6","article-title":"Mendelian inheritance in man","author":"McKusick, V.A.","year":"1983","unstructured":"McKusick VA. Mendelian inheritance in man. 6th ed. Baltimore, London: Johns Hopkins University Press, 1983.","edition":"6th ed"},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"66","DOI":"10.1136\/jmg.21.1.66","article-title":"Concordant monozygotic twins with bilateral renal agenesis","volume":"21","author":"Yates, J.R.W.; Mortimer, G.; Connor, J.M.; Duke, J.E.","year":"1984","unstructured":"Yates JRW, Mortimer G, Connor JM, Duke JE. Concordant monozygotic twins with bilateral renal agenesis. J Med Genet 1984;21:66-7.","journal-title":"J Med Genet"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1136\/jmg.16.3.176","article-title":"A family study of renal agenesis","volume":"16","author":"Carter, C.O.; Evans, K.; Pescia, G.","year":"1979","unstructured":"Carter CO, Evans K, Pescia G. A family study of renal agenesis. J Med Genet 1979;16:176-88.","journal-title":"J Med Genet"},{"key":"ref_9","unstructured":"SUMMARY A rare association of triphalangeal thumbs and duplication of the big toes is described. The family pedigree confirms autosomal dominant inheritance with marked penetrance. A systematic approach to the diagnosis of this anomaly is presented. The distinction between the two types of triphalangeal thumb, true (opposable) and fingerlike (non-opposable), is emphasised.","article-title":"SUMMARY A rare association of triphalangeal thumbs and duplication of the big toes is described. The family pedigree confirms autosomal dominant inheritance with marked penetrance. A systematic approach to the diagnosis of this anomaly is presented. The distinction between the two types of triphalangeal thumb, true (opposable) and fingerlike"},{"article-title":"1) was born in 1981 after a normal pregnancy and delivery to a 30 year old, G2, P1, Al healthy mother. The parents were unrelated. The pregnancy was normal. There was no history of any medication, alcohol intake, or smoking during pregnancy","author":"V.","key":"ref_10","unstructured":"(V. 1) was born in 1981 after a normal pregnancy and delivery to a 30 year old, G2, P1, Al healthy mother. The parents were unrelated. The pregnancy was normal. There was no history of any medication, alcohol intake, or smoking during pregnancy."},{"article-title":"The family pedigree is shown in fig 1. The first child Received for publication 27 January 19X4","year":"1984","key":"ref_11","unstructured":"The family pedigree is shown in fig 1. The first child Received for publication 27 January 19X4. Accepted for publication I June 1984."}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.22.1.76","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T17:43:32Z","timestamp":1760723012000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.22.1.76"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,2]]},"references-count":11,"journal-issue":{"issue":"1","published-online":{"date-parts":[[1985,2,1]]},"published-print":{"date-parts":[[1985,2]]}},"alternative-id":["10.1136\/jmg.22.1.76"],"URL":"https:\/\/doi.org\/10.1136\/jmg.22.1.76","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"type":"print","value":"0022-2593"},{"type":"electronic","value":"1468-6244"}],"subject":[],"published":{"date-parts":[[1985,2]]}}}